Autosomal-dominant polycystic kidney disease in infancy and childhood: progression and outcome

BACKGROUND: The natural history of autosomal-dominant polycystic kidney disease (ADPKD) has not been well described in children and infants. METHODS: The present study analyzed the characteristics of 46 ADPKD children diagnosed before 18 months of life (VEO) and 153 children diagnosed between 18 months of age and 18 years of age (non-VEO). RESULTS: VEO children had more cysts and larger renal volumes than non-VEO children when adjusted for age. In both VEO and non-VEO children, the presence of signs or symptoms at the time of diagnosis as well as the presence of hematuria or proteinuria at the study visit were associated with larger renal volumes. Children diagnosed early (VEO) or diagnosed due to signs or symptoms were also more likely to have high blood pressure. Two VEO children and no non-VEO children reached end-stage renal disease during follow-up. CONCLUSION: In contrast to many published case reports suggesting the occurrence of early end-stage renal disease in VEO children, the results of the present study were much more optimistic. Over 90% of the VEO children maintained preserved renal function well into childhood.